The role of TERT promoter mutations in differentiating recurrent nevi from recurrent melanomas: a retrospective, case-control study

Publication date: Available online 1 October 2018

Source: Journal of the American Academy of Dermatology

Author(s): Kara E. Walton, Erin M. Garfield, Bin Zhang, Victor L. Quan, Katherine Shi, Lauren S. Mohan, Alexandra M. Haugh, Timothy VandenBoom, Pedram Yazdan, Maria Cristina Isales, Elnaz Panah, Pedram Gerami

Abstract

Background

Repigmentation at previous biopsy sites pose a significant diagnostic dilemma given clinical and histologic similarities between recurrent nevi and locally recurrent melanoma. While common in melanoma, the role of TERT promoter mutations (TPMs) in recurrent nevi is unknown.

Objective

We investigated the role of TPMs in recurrent nevi and whether the presence of hotspot TPM distinguishes recurrent nevi from locally recurrent melanoma. We also characterized clinical and histologic features differentiating these lesions.

Methods

We analyzed 11 locally recurrent melanomas, 17 recurrent nevi, and melanoma and nevus controls to determine TPM status. We also assessed clinical and histologic features of the recurrent groups.

Results

Hotspot TPMs were more common in recurrent melanomas compared to recurrent nevi (p=0.008). Recurrent melanomas were more likely to have solar elastosis (p=0.0047), multi-layering of melanocytes in the epidermis (p=0.0221), adnexal involvement (p=0.0069), and epidermal consumption (p=0.0204). Recurrent nevi had intra-epidermal atypia limited to the area above the scar (p<0.0001) and occurred earlier after the original biopsy (p<0.0008). Solar elastosis, months to recurrence, and hotspot TPM were independently associated with recurrent melanoma in multivariate analysis.

Limitations

This was a retrospective study.

Conclusion

Hotspot TPMs are significantly more frequent in recurrent melanomas and may serve as a diagnostic clue in histologically ambiguous cases.